Canonical Allele Identifier: CA2614713168

Gene: LRP5

Linked Data

• gnomAD v4: 11-68406659-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68406660dup , CM000673.2:g.68406660dup	GRCh38
NC_000011.9:g.68174128dup , CM000673.1:g.68174128dup	GRCh37
NC_000011.8:g.67930704dup	NCBI36
NG_015835.1:g.99021dup
NG_015835.2:g.99021dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294304.12:c.1938dup MANE Select	ENSP00000294304.6:p.Val648GlyfsTer17
ENST00000294304.11:c.1938dup	ENSP00000294304.6:p.Val648GlyfsTer17
ENST00000529993.5:c.*544dup	ENSP00000436652.1:n.*544dup
NM_001291902.1:c.195dup	NP_001278831.1:p.Val67GlyfsTer17
NM_002335.3:c.1938dup	NP_002326.2:p.Val648GlyfsTer17
XM_005273994.2:c.1938dup	XP_005274051.1:p.Val648GlyfsTer17
XM_011545029.1:c.1965dup	XP_011543331.1:p.Val657GlyfsTer17
XM_011545030.1:c.1965dup	XP_011543332.1:p.Val657GlyfsTer17
XM_011545031.1:c.1965dup	XP_011543333.1:p.Val657GlyfsTer17
XR_949925.1:n.1980dup
XR_949926.1:n.1980dup
XM_017017735.1:c.195dup	XP_016873224.1:p.Val67GlyfsTer17
XR_001747874.1:n.1980dup
XR_949925.2:n.1980dup
XR_949926.2:n.1980dup
NM_002335.4:c.1938dup MANE Select	NP_002326.2:p.Val648GlyfsTer17
NM_001291902.2:c.195dup	NP_001278831.1:p.Val67GlyfsTer17